| Primary Identifier | MGI:1932872 | Organism | mouse, laboratory |
| Chromosome | 11 | NCBI Gene Number | 83429 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables L-cystine transmembrane transporter activity. Involved in positive regulation of TORC1 signaling. Acts upstream of or within several processes, including adult walking behavior; grooming behavior; and learning or memory. Located in lysosome. Used to study cystinosis. Human ortholog(s) of this gene implicated in cystinosis. Orthologous to human CTNS (cystinosin, lysosomal cystine transporter). PHENOTYPE: Homozygotes for a targeted null mutation exhibit increased intracellular cystine, progressive accumulation of cystine crystals, occasional muscle impairment, reduced exploratory activity, osteoporosis, and lowered electroretinogram amplitude. [provided by MGI curators] |
Features --> Cross References
Canonical gene --> CDSs in specific strains.
Canonical gene --> Exons in specific strains
Canonical gene --> Strain-specific IDs, biotypes, and locations
Canonical gene --> Transcripts in specific strains.
Features --> Overlapping features
